Adult-onset autosomal dominant leukodystrophy

Definition:

Adult-onset autosomal dominant leukodystrophy (ADLD) is a slowly progressive neurological disorder characterized by symmetrical widespread myelin loss in the central nervous system. Although a phenotype is similar to that of multiple sclerosis, ADLD neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis. It has been reported that ADLD can be caused by a tandem genomic duplication resulting in an extra copy of the lamin B1 gene.

References:

[1]. Quasar S Padiath, et al. Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet. 2006 Oct;38(10):1114-23. [Content Brief]

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